G26D (p.Gly26Asp) variant of SPG7 (Q9UQ90)
G26D (p.Gly26Asp) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
G26D (p.Gly26Asp) variant details
- p.Gly26Asp
- gnomAD 16-89508494-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.115
- CADD 7.84
- PolyPhen-2 0.00
- SIFT 0.23
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available